- published: 05 Sep 2014
- views: 55638
Cystic fibrosis (also known as CF or mucoviscidosis) is an autosomal recessive genetic disorder affecting most critically the lungs, and also the pancreas, liver, and intestine. It is characterized by abnormal transport of chloride and sodium across an epithelium, leading to thick, viscous secretions.
The name cystic fibrosis refers to the characteristic scarring (fibrosis) and cyst formation within the pancreas, first recognized in the 1930s.Difficulty breathing is the most serious symptom and results from frequent lung infections that are treated with antibiotics and other medications. Other symptoms, including sinus infections, poor growth, and infertility affect other parts of the body.
CF is caused by a mutation in the gene for the protein cystic fibrosis transmembrane conductance regulator (CFTR). This protein is required to regulate the components of sweat, digestive juices, and mucus. CFTR regulates the movement of chloride and sodium ions across epithelial membranes, such as the alveolar epithelia located in the lungs. Although most people without CF have two working copies of the CFTR gene, only one is needed to prevent cystic fibrosis due to the disorder's recessive nature. CF develops when neither gene works normally (as a result of mutation) and therefore has autosomal recessive inheritance.
Inherited disorder manifests with no cure
Defective genes carry this abnormality
Cell clusters fail to create necessary juices
Deficient pancreatic enzymes prohibit the digestive process
Weakling newborn not capable of fending for itself
Clogged passages instill upper lung infection
Obstruction of intestinal glands
Foul smelling stool blocks the bowel
Gradual liver atrophy impairs insulin production
Infant ravaged with diabetes
Medicine administered to stabilize blood sugar
Thick mucus blocks the exocrine glands
Respiratory contamination spreads within
Debilitating illness cuts chance of survival